Paralogue Annotation for KCNQ1 residue 318

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 318
Reference Amino Acid: K - Lysine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNQ1 residue 318

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCND3M373ISpinocerebellar ataxia 19Medium9 23280838, 25854634

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in KCNQ1.



KCNQ1--ESGRVEFGSYADALWWGVVTVTTIGYGD>K<VPQTWVGKTIASCFSVFAISFFALPAGILG348
KCNQ2-----NDHFDTYADALWWGLITLTTIGYGD>K<YPQTWNGRLLAATFTLIGVSFFALPAGILG313
KCNQ3QGEEMKEEFETYADALWWGLITLATIGYGD>K<TPKTWEGRLIAATFSLIGVSFFALPAGILG352
KCNQ4-----NSDFSSYADSLWWGTITLTTIGYGD>K<TPHTWLGRVLAAGFALLGISFFALPAGILG319
KCNQ5-----NKEFSTYADALWWGTITLTTIGYGD>K<TPLTWLGRLLSAGFALLGISFFALPAGILG347
KCNA1----AESHFSSIPDAFWWAVVSMTTVGYGD>M<YPVTIGGKIVGSLCAIAGVLTIALPVPVIV408
KCNA10----PESHFSSIPDGFWWAVVTMTTVGYGD>M<CPTTPGGKIVGTLCAIAGVLTIALPVPVIV457
KCNA2----RESQFPSIPDAFWWAVVSMTTVGYGD>M<VPTTIGGKIVGSLCAIAGVLTIALPVPVIV410
KCNA3----PTSGFSSIPDAFWWAVVTMTTVGYGD>M<HPVTIGGKIVGSLCAIAGVLTIALPVPVIV480
KCNA4----PTTHFQSIPDAFWWAVVTMTTVGYGD>M<KPITVGGKIVGSLCAIAGVLTIALPVPVIV560
KCNA5----QGTHFSSIPDAFWWAVVTMTTVGYGD>M<RPITVGGKIVGSLCAIAGVLTIALPVPVIV516
KCNA6----DDSLFPSIPDAFWWAVVTMTTVGYGD>M<YPMTVGGKIVGSLCAIAGVLTIALPVPVIV458
KCNA7----VDSHFTSIPESFWWAVVTMTTVGYGD>M<APVTVGGKIVGSLCAIAGVLTISLPVPVIV394
KCNB1----DDTKFKSIPASFWWATITMTTVGYGD>I<YPKTLLGKIVGGLCCIAGVLVIALPIPIIV413
KCNB2----DATKFTSIPASFWWATITMTTVGYGD>I<YPKTLLGKIVGGLCCIAGVLVIALPIPIIV417
KCNC1PSASEHTHFKNIPIGFWWAVVTMTTLGYGD>M<YPQTWSGMLVGALCALAGVLTIAMPVPVIV436
KCNC2PSASEHTQFKNIPIGFWWAVVTMTTLGYGD>M<YPQTWSGMLVGALCALAGVLTIAMPVPVIV473
KCNC3ILGSNHTYFKNIPIGFWWAVVTMTTLGYGD>M<YPKTWSGMLVGALCALAGVLTIAMPVPVIV539
KCNC4PRGNDHTDFKNIPIGFWWAVVTMTTLGYGD>M<YPKTWSGMLVGALCALAGVLTIAMPVPVIV472
KCND1----NKTNFTSIPAAFWYTIVTMTTLGYGD>M<VPSTIAGKIFGSICSLSGVLVIALPVPVIV408
KCND2----SASKFTSIPAAFWYTIVTMTTLGYGD>M<VPKTIAGKIFGSICSLSGVLVIALPVPVIV406
KCND3----SASKFTSIPASFWYTIVTMTTLGYGD>M<VPKTIAGKIFGSICSLSGVLVIALPVPVIV403
KCNF1----PETLFKSIPQSFWWAIITMTTVGYGD>I<YPKTTLGKLNAAISFLCGVIAIALPIHPII406
KCNG1A---DSPEFTSIPACYWWAVITMTTVGYGD>M<VPRSTPGQVVALSSILSGILLMAFPVTSIF460
KCNG2G---ARRDFSSVPASYWWAVISMTTVGYGD>M<VPRSLPGQVVALSSILSGILLMAFPVTSIF405
KCNG3DLETSNKDFTSIPAACWWVIISMTTVGYGD>M<YPITVPGRILGGVCVVSGIVLLALPITFIY409
KCNG4G---RVLEFTSIPASYWWAIISMTTVGYGD>M<VPRSVPGQMVALSSILSGILIMAFPATSIF454
KCNS1-----DVGFNTIPACWWWGTVSMTTVGYGD>V<VPVTVAGKLAASGCILGGILVVALPITIIF457
KCNS2-----NEGLATIPACWWWATVSMTTVGYGD>V<VPGTTAGKLTASACILAGILVVVLPITLIF410
KCNS3----HTSSLTSIPICWWWATISMTTVGYGD>T<HPVTLAGKLIASTCIICGILVVALPITIIF406
KCNV1----PDTTFTSVPCAWWWATTSMTTVGYGD>I<RPDTTTGKIVAFMCILSGILVLALPIAIIN428
KCNV2----PSTNFTTIPHSWWWAAVSISTVGYGD>M<YPETHLGRFFAFLCIAFGIILNGMPISILY493
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.K318Nc.954G>C Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1. Genomics. 1998 51(1):86-97. 9693036
Inherited ArrhythmiaLQTS Compound mutations: a common cause of severe long-QT syndrome. Circulation. 2004 109(15):1834-41. 15051636
p.Lys318Thrc.953A>C UnknownSIFT:
Polyphen: